Journal of Human Immunity
@jhumimmunity.org
Journal of Human Immunity (JHI) is the official open access journal of the International Alliance for Primary Immunodeficiency Societies (IAPIDS). Published by @rupress.org 🌐 jhumimmunity.org
Ünal, Dublanc, Bustamante, @jrosain.bsky.social et al. @hopitalnecker.bsky.social report two patients with Whipple’s disease caused by autosomal dominant IRF4 deficiency. rupress.org/jhi/article/...
@esidsociety.bsky.social
#InbornErrorsOfImmunity
@esidsociety.bsky.social
#InbornErrorsOfImmunity
November 11, 2025 at 5:02 PM
Ünal, Dublanc, Bustamante, @jrosain.bsky.social et al. @hopitalnecker.bsky.social report two patients with Whipple’s disease caused by autosomal dominant IRF4 deficiency. rupress.org/jhi/article/...
@esidsociety.bsky.social
#InbornErrorsOfImmunity
@esidsociety.bsky.social
#InbornErrorsOfImmunity
ORAI1 mutation with mixed loss- and gain-of-function properties causes #immunodeficiency and HLH, say Lucile Noyer (@Lucilenoyer.bsky.social) , Stefan Feske (@stefanfeske.bsky.social) and colleagues (NYU Grossman School of Medicine): rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
November 6, 2025 at 7:45 PM
ORAI1 mutation with mixed loss- and gain-of-function properties causes #immunodeficiency and HLH, say Lucile Noyer (@Lucilenoyer.bsky.social) , Stefan Feske (@stefanfeske.bsky.social) and colleagues (NYU Grossman School of Medicine): rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
The systemic effects of 22q11.2 deletion syndrome on immunity. New review from Nicolai van Oers (UT Southwestern) and Kathleen Sullivan (@childrensphila.bsky.social): rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
November 6, 2025 at 3:45 PM
The systemic effects of 22q11.2 deletion syndrome on immunity. New review from Nicolai van Oers (UT Southwestern) and Kathleen Sullivan (@childrensphila.bsky.social): rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity #ImmunologicalPhenotypes #TCellDeficiencies
A 𝘞𝘈𝘚 promoter variant underlying Wiskott-Aldrich syndrome in two kindreds. New report from Pauline Ober, Christelle Lenoir, Jérémie Rosain @jrosain.bsky.social and collegues @upcite.bsky.social @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
November 6, 2025 at 2:31 PM
A 𝘞𝘈𝘚 promoter variant underlying Wiskott-Aldrich syndrome in two kindreds. New report from Pauline Ober, Christelle Lenoir, Jérémie Rosain @jrosain.bsky.social and collegues @upcite.bsky.social @hopitalnecker.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #Diagnostics
#InbornErrorsOfImmunity #Diagnostics
JHI's November issue is here! rupress.org/jhi/issue/1/4
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
November 3, 2025 at 3:04 PM
JHI's November issue is here! rupress.org/jhi/issue/1/4
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
Cover shows how genetic and immunologic modifiers shape the penetrance of TNFRSF13B variants, redefining their contribution to antibody deficiency. From Abolhassani et al. See doi.org/10.70962/jhi...
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
October 31, 2025 at 6:45 PM
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
The seven enigmas of #SARSCoV2: From the past to the future. New review from Evangelos Andreakos, Helen Su, Jean-Laurent Casanova (@casanovalab.bsky.social) and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
October 31, 2025 at 2:45 PM
The seven enigmas of #SARSCoV2: From the past to the future. New review from Evangelos Andreakos, Helen Su, Jean-Laurent Casanova (@casanovalab.bsky.social) and colleagues: rupress.org/jhi/article/...
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
#InbornErrorsOfImmunity #InfectiousDiseases #PopulationGenetics
New review: Nicolai van Oers and Kathleen Sullivan summarize 22q11.2 deletion syndrome, which has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
October 30, 2025 at 5:30 PM
New review: Nicolai van Oers and Kathleen Sullivan summarize 22q11.2 deletion syndrome, which has complex clinical presentations, with congenital malformations of the thymus leading to many immune system changes. rupress.org/jhi/article/...
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
@clinimmsoc.bsky.social
#InbornErrorsOfImmunity
Noyer, @stefanfeske.bsky.social et al show that a novel mutation in ORAI1 results in constitutive CRAC channel activation while abolishing stimulation-induced channel opening. The mutation is associated with severe immune dysregulation, incl. altered T & NK cell function rupress.org/jhi/article/...
October 30, 2025 at 4:45 PM
Noyer, @stefanfeske.bsky.social et al show that a novel mutation in ORAI1 results in constitutive CRAC channel activation while abolishing stimulation-induced channel opening. The mutation is associated with severe immune dysregulation, incl. altered T & NK cell function rupress.org/jhi/article/...
Ober, Lenoir, @jrosain.bsky.social et al. report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds w/ features of Wiskott-Aldrich Syndrome. rupress.org/jhi/article/...
@esidsociety.bsky.social
@esidsociety.bsky.social
October 30, 2025 at 4:01 PM
Ober, Lenoir, @jrosain.bsky.social et al. report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds w/ features of Wiskott-Aldrich Syndrome. rupress.org/jhi/article/...
@esidsociety.bsky.social
@esidsociety.bsky.social
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases. New review from Adrian Gervais, Alessandro Borghesi (@esibor.bsky.social), Jean-Laurent Casanova (@casanovalab.bsky.social), and Shen-Ying Zhang @inserm.fr: rupress.org/jhi/article/...
October 30, 2025 at 1:45 PM
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases. New review from Adrian Gervais, Alessandro Borghesi (@esibor.bsky.social), Jean-Laurent Casanova (@casanovalab.bsky.social), and Shen-Ying Zhang @inserm.fr: rupress.org/jhi/article/...
A heterozygous USB1 variant linked to #immunodeficiency. New study from Alice Valagussa, Sven Kracker and colleagues @institutimagine.bsky.social @inserm.fr: rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
October 29, 2025 at 2:15 PM
A heterozygous USB1 variant linked to #immunodeficiency. New study from Alice Valagussa, Sven Kracker and colleagues @institutimagine.bsky.social @inserm.fr: rupress.org/jhi/article/...
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
Noninfectious manifestations of CVID have not been formally summarized. In this systematic literature review, Ducasa, Marsh et al. provide a comprehensive summary as a reference point for the field, revealing pervasive detrimental noninfectious manifestations. rupress.org/jhi/article/...
October 24, 2025 at 5:15 PM
Noninfectious manifestations of CVID have not been formally summarized. In this systematic literature review, Ducasa, Marsh et al. provide a comprehensive summary as a reference point for the field, revealing pervasive detrimental noninfectious manifestations. rupress.org/jhi/article/...
In this review, Andreakos et al. report the progress of the COVID Human Genetic Effort since its launch 5 years ago, with the aim to understand clinical variability, from resistance to severe outcomes, among individuals exposed to #SARSCoV2. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
October 24, 2025 at 4:32 PM
In this review, Andreakos et al. report the progress of the COVID Human Genetic Effort since its launch 5 years ago, with the aim to understand clinical variability, from resistance to severe outcomes, among individuals exposed to #SARSCoV2. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
Gervais, @esibor.bsky.social, @casanovalab.bsky.social, and Zhang review how #autoantibodies neutralizing antiviral type I IFNs underlie a small but growing number of severe #arboviral diseases. Genetic defects of type I IFN immunity may underlie other unexplained cases. rupress.org/jhi/article/...
October 23, 2025 at 4:01 PM
Gervais, @esibor.bsky.social, @casanovalab.bsky.social, and Zhang review how #autoantibodies neutralizing antiviral type I IFNs underlie a small but growing number of severe #arboviral diseases. Genetic defects of type I IFN immunity may underlie other unexplained cases. rupress.org/jhi/article/...
New study from Valagussa, Kracker et al. @institutimagine.bsky.social identifies and characterizes a novel heterozygous USB1 variant (p.P44L) in a patient with #hypogammaglobulinemia and low #neutrophil counts, showing altered protein localization and function. rupress.org/jhi/article/...
October 22, 2025 at 4:30 PM
New study from Valagussa, Kracker et al. @institutimagine.bsky.social identifies and characterizes a novel heterozygous USB1 variant (p.P44L) in a patient with #hypogammaglobulinemia and low #neutrophil counts, showing altered protein localization and function. rupress.org/jhi/article/...
A novel heterozygous pathogenic AIRE variant causing #autoimmunity but not infectious susceptibility. New study from Mounavi Vemula, Alberto Pinzon-Charry (Children's Health Queensland) & colleagues: rupress.org/jhi/article/...
@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity
@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity
October 16, 2025 at 1:45 PM
A novel heterozygous pathogenic AIRE variant causing #autoimmunity but not infectious susceptibility. New study from Mounavi Vemula, Alberto Pinzon-Charry (Children's Health Queensland) & colleagues: rupress.org/jhi/article/...
@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity
@anne-puel.bsky.social @casanovalab.bsky.social
#InbornErrorsOfImmunity
Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. rupress.org/jhi/article/...
#Autoimmunity
#Autoimmunity
October 9, 2025 at 4:00 PM
Vemula, Pinzon-Charry et al. describe a novel heterozygous variant in AIRE in 3 individuals with mild #APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED. rupress.org/jhi/article/...
#Autoimmunity
#Autoimmunity
Cartilage-hair hypoplasia: A comprehensive review. Svetlana Vakkilainen summarizes 60 years of CHH research, covering genetic aspectss, pathogenesis, clinical & laboratory features, as well as diagnostic & management considerations rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
October 8, 2025 at 1:34 PM
Cartilage-hair hypoplasia: A comprehensive review. Svetlana Vakkilainen summarizes 60 years of CHH research, covering genetic aspectss, pathogenesis, clinical & laboratory features, as well as diagnostic & management considerations rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
Novel genotypes, phenotypes, and triggers in humans with #OTULIN #haploinsufficiency. Tristan van der Linden, András Spaan et al. characterize six unrelated patients in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/...
#Staphylococcus #Ubiquitin
#Staphylococcus #Ubiquitin
October 7, 2025 at 1:21 PM
Novel genotypes, phenotypes, and triggers in humans with #OTULIN #haploinsufficiency. Tristan van der Linden, András Spaan et al. characterize six unrelated patients in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/...
#Staphylococcus #Ubiquitin
#Staphylococcus #Ubiquitin
Tiago Santos de Oliveira, Antonio Condino-Neto et al. describe #CGD #epidemiology in Latin America, highlighting high infection risks, limited treatment options, & poor survival rates, especially for males with XL-CGD. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
@lasidofficial.bsky.social
#InbornErrorsOfImmunity
@lasidofficial.bsky.social
October 6, 2025 at 4:53 PM
Tiago Santos de Oliveira, Antonio Condino-Neto et al. describe #CGD #epidemiology in Latin America, highlighting high infection risks, limited treatment options, & poor survival rates, especially for males with XL-CGD. rupress.org/jhi/article/...
#InbornErrorsOfImmunity
@lasidofficial.bsky.social
#InbornErrorsOfImmunity
@lasidofficial.bsky.social
Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis. A report by Dalia Abd Elaziz, Alperen Baran, Aysima Atilgan Lulecioglu, Hanaa El-Karaksy, @casanovalab.bsky.social, Serkan Belkaya, Emmanuelle Jouanguy et al.
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
October 3, 2025 at 1:23 PM
Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis. A report by Dalia Abd Elaziz, Alperen Baran, Aysima Atilgan Lulecioglu, Hanaa El-Karaksy, @casanovalab.bsky.social, Serkan Belkaya, Emmanuelle Jouanguy et al.
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
rupress.org/jhi/article/...
#InbornErrorsOfImmunity
Everything you wanted to know about cartilage-hair hypoplasia: Svetlana Vakkilainen reviews 60 years of CHH research, covering genetic aspects, pathogenesis, clinical & laboratory features, as well as diagnostic & management considerations rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
October 1, 2025 at 5:25 PM
Everything you wanted to know about cartilage-hair hypoplasia: Svetlana Vakkilainen reviews 60 years of CHH research, covering genetic aspects, pathogenesis, clinical & laboratory features, as well as diagnostic & management considerations rupress.org/jhi/article/...
#InbornErrorsOfImmunity
#InbornErrorsOfImmunity
Tristan van der Linden, András Spaan et al. describe and characterize six unrelated patients with #OTULIN #haploinsufficiency, in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/...
#Staphylococcus #Ubiquitin
#Staphylococcus #Ubiquitin
September 30, 2025 at 5:17 PM
Tristan van der Linden, András Spaan et al. describe and characterize six unrelated patients with #OTULIN #haploinsufficiency, in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/...
#Staphylococcus #Ubiquitin
#Staphylococcus #Ubiquitin
A previous report described an inherited deficiency of IL-18BP in an Algerian patient who died of fulminant viral hepatitis (FVH) A. Abd Elaziz et al. now report an Egyptian family with two siblings who died from FVH following infection with hepatitis A virus. rupress.org/jhi/article/...
September 26, 2025 at 4:58 PM
A previous report described an inherited deficiency of IL-18BP in an Algerian patient who died of fulminant viral hepatitis (FVH) A. Abd Elaziz et al. now report an Egyptian family with two siblings who died from FVH following infection with hepatitis A virus. rupress.org/jhi/article/...